Rare heart diseases are a group of conditions that affect the structure or function of the heart. They’re often genetic, meaning they’re caused by a change in a person’s genes. Rare heart diseases can have a wide range of symptoms, from mild to severe. They can also affect people of all ages, including infants and children. Some of the most common symptoms of rare heart diseases are shortness of breath, chest pain, irregular heartbeat, and dizziness. Treatment options for rare heart diseases can include medication, surgery, and implantable devices.

Types Of Rare Heart Disease

1. ARVC- It’s a condition where the muscle in the right ventricle, or the right lower heart chamber, is replaced by fat and scar tissue. This can cause an irregular heart rhythm, called an arrhythmia, and it can lead to sudden cardiac death. The symptoms of ARVC can include dizziness, lightheadedness, shortness of breath, and fainting. In most cases, it’s diagnosed in people between the ages of 20 and 40.
2. HCM- This disease causes the heart muscle to become abnormally thick. It can lead to heart failure, abnormal heart rhythms, blood clots, and sudden cardiac death. The symptoms of HCM can include shortness of breath, chest pain, dizziness, and fainting. People with HCM may also have a heart murmur. In some cases, people with HCM don’t have any symptoms. The condition is usually diagnosed with a physical exam, an EKG, and an echocardiogram. Treatment options include medication, surgery, and implantable devices.
3. Dilated Cardiomyopathy (DCM). DCM is a condition that causes the left ventricle to become enlarged and weakened. This can lead to heart failure and arrhythmias. It’s estimated that DCM affects 1 in every 250 people. Some of the most common symptoms are fatigue, shortness of breath, and swelling in the feet and legs.
4. BAV is a condition where the aortic valve has only two leaflets instead of the normal three. This can cause the valve to leak, which can lead to heart failure and other complications. It’s estimated that BAV affects 1 in every 100 to 300 people.
5. Hypertrophic Cardiomyopathy with left ventricular noncompaction (LVNC). This is a combination of two diseases, LVNC and HCM, that can cause more severe symptoms than either disease alone. Hypertrophic cardiomyopathy with left ventricular noncompaction (HCM-LVNC) is a condition that can be difficult to diagnose. It can have symptoms similar to both HCM and LVNC, which can make it hard to tell the two conditions apart. In HCM-LVNC, the left ventricle is enlarged and has areas of noncompaction. This can lead to a thickened heart wall, abnormal heart rhythms, and blood clots. Treatment options include medication, surgery, and implantable devices. Some people with this condition may also need a heart transplant.
6. Ebstein’s Anomaly. This is a rare condition that affects the tricuspid valve in the heart. In some cases, babies with this condition may need surgery to repair the tricuspid valve. In more severe cases, a heart transplant may be necessary. Other treatment options may include medications and catheter procedures.
7. The seventh disease is univentricular heart defects. This is a group of heart defects that occur when the heart only has one ventricle, instead of the normal two. The most common type of univentricular heart defect is hypoplastic left heart syndrome (HLHS). With HLHS, the left side of the heart is underdeveloped and doesn’t function properly. This can cause a shortage of oxygen-rich blood to the body. Treatment for HLHS typically involves a series of operations to reconstruct the heart. Other types of univentricular heart defects include tricuspid atresia, double-inlet left ventricle, and pulmonary atresia with intact ventricular septum. Each of these conditions has its own specific treatment options.
8. The eighth disease is double outlet right ventricle (DORV). This is a condition where the aorta, which is the main artery that carries blood to the body, connects to the right ventricle instead of the left ventricle. This can cause problems with blood flow to the body and the lungs. Treatment options for DORV include surgery and, in some cases, a heart transplant.
9. Tetralogy of Fallot.Tetralogy of Fallot is a condition that affects four parts of the heart. It includes a ventricular septal defect (VSD), pulmonary stenosis, right ventricular hypertrophy, and an overriding aorta. These abnormalities cause blood to flow abnormally through the heart and to the lungs. This can lead to a shortage of oxygen in the body and cause cyanosis, or a bluish-gray color of the skin. Treatment options for tetralogy of Fallot include surgery, medication, and other interventions.
10. This is Truncus Arteriosus. This is a condition where there is only one large blood vessel coming out of the heart, instead of two. This single vessel is called a truncus arteriosus, and it carries both oxygen-rich and oxygen-poor blood. This condition can lead to problems with blood flow and oxygenation of the blood. Treatment options for truncus arteriosus include surgery and, in some cases, a heart transplant.

General Overview of the Causes of these Rare Heart Diseases

While the exact causes of each of these rare heart diseases are not always known, there are some general risk factors that can increase the chances of developing them. These include genetic factors, exposure to certain infections or chemicals during pregnancy, problems with the heart’s development in the womb, and problems during labor and delivery.

Treatments For the Rare Heart Diseases:

The treatments for Truncus Arteriosus. In some cases, a baby with this condition may need surgery in the first few days of life to repair the heart. If the baby is stable, the surgery may be delayed for a few weeks. The goal of surgery is to separate the pulmonary artery and the aorta so that they are separate vessels. Some babies may also need a heart transplant if the condition is severe. Medications may also be needed to help the heart function better.

1. For Tetralogy of Fallot, most babies with this condition need surgery within the first year of life. The goal of surgery is to repair the defects in the heart, including the VSD and the narrowed pulmonary valve. Some babies may also need a procedure called a Blalock-Taussig shunt. This is a procedure that creates a new blood vessel to improve blood flow to the lungs. Some babies may also need a heart transplant.
2. DCM can be caused by many different things. So, the treatment of DCM may vary depending on the cause. But, in general, the treatment of DCM includes medication, a low-sodium diet, and exercise. Medications that may be used to treat DCM include ACE inhibitors, beta-blockers, and diuretics. In some cases, a cardiac resynchronization therapy device may be used. It’s also important to manage stress and to get regular medical checkups.
3. Bicuspid Aortic Valve (BAV) treatment. The treatment for BAV depends on the severity of the condition. For people with mild or no symptoms, treatment may not be needed. For people with moderate or severe symptoms, treatment is usually needed. Treatment options include medication, surgery, and a procedure called aortic valve repair. The goal of treatment is to help the heart pump blood more efficiently.
4. There are a few different treatment options for atrioventricular reciprocating tachycardia (AVRT). One treatment option is a catheter ablation procedure. This is a procedure where the abnormal electrical pathway in the heart is destroyed. This usually stops the arrhythmia. Another treatment option is medication. Some medications that may be used to treat AVRT include beta-blockers, calcium channel blockers, and digoxin. Sometimes, a combination of these medications is used.
5. The treatment of left ventricular non-compaction cardiomyopathy (LVNC). First, I should mention that the treatment of LVNC depends on the severity of the condition. In many cases, people with LVNC don’t need any treatment. In some cases, people with LVNC may need to take medication to control their symptoms. The most common medication used to treat LVNC is a type of medication called an ACE inhibitor. It’s important to note that the treatment of LVNC may vary from person to person.
6. The surgery that is often used to treat AVSD. This surgery is called the Mustard procedure or the Senning procedure. Both procedures involve creating a wall to separate the atria and the ventricles. They also involve repairing or replacing the valves. Sometimes, the Mustard procedure or the Senning procedure is done in stages. After the surgery, most people with AVSD will need to take medications and have regular follow-up appointments with their doctor.
7. Total Anomalous Pulmonary venous return (TAPVR). This is a condition where the pulmonary veins, which carry oxygen-rich blood from the lungs to the heart, are connected to the wrong place. The treatment for this condition is surgery to connect the pulmonary veins to the right place. This surgery is usually done in the first few months of life.
8. Ebstein’s Anomaly. This is a rare condition that affects the tricuspid valve in the heart. In some cases, babies with this condition may need surgery to repair the tricuspid valve. In more severe cases, a heart transplant may be necessary. Other treatment options may include medications and catheter procedures.
9. DORV. Like some of the other diseases we’ve discussed, DORV often requires surgery in the first year of life. The specific surgery will depend on the exact abnormalities in the heart. In some cases, two surgeries may be needed. In addition to surgery, some babies with DORV may need to be on medication, including blood thinners and diuretics.
10. That’s great! Now, we’re on to Transposition of the great Arteries. This is a condition where the pulmonary artery and the aorta are connected to the wrong pumping chamber of the heart. The most common treatment for this condition is the arterial switch operation. This is a surgery that involves switching the position of the aorta and the pulmonary artery so that they connect to the correct heart chambers. In some cases, a balloon procedure called an atrial septostomy may be needed.

Bottom Line

There are many different types of rare heart diseases. The causes, symptoms, and treatment options can vary greatly depending on the specific disease. It’s important to speak with a doctor if you have any concerns about your heart health. Early detection and treatment can often improve outcomes. And it’s always a good idea to practice healthy habits like eating a nutritious diet, exercising regularly, and managing stress.

The goal of surgery is to repair the abnormalities in the heart and to improve blood flow. Other treatment options may include medications, catheter procedures, and sometimes heart transplant. It’s important to remember that each case is different, and the treatment plan will depend on the specific disease and the individual patient.